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  • About Us
    • Who We Are
    • What are ERNs ?
    • Our EU expert centers
    • Our Patient Associations
    • Our EU partnerships
  • Our Workgroups
    • Neurodevelopmental disorders (WG5)
    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)

    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)

    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course

    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
  • News & Events
    • Webinars
    • EuroDysmorpho 2025
    • EuroNDD 2026
    • NSEuronet Meeting
    • ERN-ITHACA Winter School

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  • ERN-ITHACA webinar: TSC-associated neuropsychiatric disorders and the TANDem project

    Educational videos
  • Protein losing enteropathy (PLE) in Myhre syndrome

    Myhre syndrome
    Call for Collaboration
  • Understanding the clinical and molecular variability of SMARCA4-related disorder

    SMARCA4, Coffin-Siris syndrome
    Call for Collaboration
  • ERN-ITHACA Webinar: Navigating Angelman syndrome in clinical practice

    Educational videos
  • Exploring the clinical and molecular variability of RATARS

    SPEN/RATARS
    Call for Collaboration
  • ERDERA

    ERDERA
  • Deep phenotyping and natural history of NDUFV1-related mitochondrial disorder

    NDUFV1
    Call for Collaboration
  • Registration form

    EuroDysmorpho 2025
  • ASH1L-Related Disorder

    ASH1L
    Call for Collaboration
  • ERN-ITHACA Webinar “With the patient in the middle: focus on the whole family – a Norwegian model”

    Educational videos

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ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

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